PTH1R, parathyroid hormone 1 receptor, 5745

N. diseases: 187; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4539969
rs4539969
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11926707
rs11926707
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
dbSNP: rs2242116
rs2242116
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0005612
Disease:
Birth Weight 		A 0.700 GeneticVariation GWASCAT Genome-wide associations for birth weight and correlations with adult disease. 27680694 2016
dbSNP: rs121434603
rs121434603
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1838779
Disease:
Eiken Skeletal Dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434604
rs121434604
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434605
rs121434605
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1852222
Disease:
Failure of Tooth Eruption, Primary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122843
rs398122843
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1859148
Disease:
Chondrodysplasia, blomstrand type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs769180471
rs769180471
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1852222
Disease:
Failure of Tooth Eruption, Primary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C4021790
Disease:
Abnormality of the skeletal system 		0.010 GeneticVariation BEFREE Here we explored whether one such inverse agonist ligand, [Leu<sup>11</sup> ,dTrp<sup>12</sup> ,Trp<sup>23</sup> ,Tyr<sup>36</sup> ]-PTHrP(7-36)NH<sub>2</sub> (IA), can be effective in vivo and thus ameliorate the skeletal abnormalities that occur in transgenic mice expressing the PTHR1-H223R allele of JMC in osteoblastic cells via the collagen-1α1 promoter (C1HR mice). 31693237 2020
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0020437
Disease:
Hypercalcemia 		0.010 GeneticVariation BEFREE The H223R mutation is typically associated with profound hypercalcemia despite low/normal PTH levels. 27410178 2016
dbSNP: rs121434597
rs121434597
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0265290
Disease:
Metaphyseal chondrodysplasia 		0.010 GeneticVariation BEFREE Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia. 27410178 2016
dbSNP: rs1027263198
rs1027263198
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1704356
Disease:
Enchondroma 		0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376 2008
dbSNP: rs121434601
rs121434601
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1704356
Disease:
Enchondroma 		0.010 GeneticVariation BEFREE In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis. 18559376 2008
dbSNP: rs121434601
rs121434601
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE However, neither the p.R150C mutation (26 tumors) nor any other mutation in the PTHR1 gene (11 patients) could be identified in another study. 18559376 2008
dbSNP: rs200197785
rs200197785
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R
CUI: C1704356
Disease:
Enchondroma 		0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376 2008